ClinVar for MedGen (Select 332383) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3780778	NM_199242.3(UNC13D):c.807del (p.Tyr270fs)	UNC13D (Y270fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3775350	NM_199242.3(UNC13D):c.1055+5G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3775093	NM_199242.3(UNC13D):c.2625+2T>C	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3729125	NM_199242.3(UNC13D):c.3165G>T (p.Leu1055=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3727905	NM_199242.3(UNC13D):c.970del (p.Asp324fs)	UNC13D (D324fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 3727409	NM_199242.3(UNC13D):c.2619C>G (p.Thr873=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3721909	NM_199242.3(UNC13D):c.1860G>T (p.Leu620=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3720077	NM_199242.3(UNC13D):c.2338G>A (p.Gly780Ser)	UNC13D (G780S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3719327	NM_199242.3(UNC13D):c.2779C>T (p.Leu927=)	UNC13D, LOC112533672	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3715139	NM_199242.3(UNC13D):c.1260T>C (p.Ser420=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3713641	NM_199242.3(UNC13D):c.2448-18_2448-14dup	UNC13D	Duplication (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3711938	NM_199242.3(UNC13D):c.702G>A (p.Arg234=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3710820	NM_199242.3(UNC13D):c.615-7C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3709762	NM_199242.3(UNC13D):c.570-13T>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3707637	NM_199242.3(UNC13D):c.1701C>T (p.Cys567=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3707408	NM_199242.3(UNC13D):c.2553+6A>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3707124	NM_199242.3(UNC13D):c.2119C>T (p.Gln707Ter)	UNC13D (Q707*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 3705480	NM_199242.3(UNC13D):c.2270G>A (p.Arg757His)	UNC13D (R757H)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3705231	NM_199242.3(UNC13D):c.148G>A (p.Glu50Lys)	UNC13D (E50K)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3704271	NM_199242.3(UNC13D):c.3007G>C (p.Val1003Leu)	UNC13D (V1003L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3702186	NM_199242.3(UNC13D):c.2710-10C>T	LOC112533672, UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3701952	NM_199242.3(UNC13D):c.1727+15A>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3700997	NM_199242.3(UNC13D):c.1799C>A (p.Thr600Lys)	UNC13D (T600K)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3699036	NM_199242.3(UNC13D):c.1849-17C>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3698913	NM_199242.3(UNC13D):c.1596+15dup	UNC13D	Duplication (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GBenign
Select item 3698189	NM_199242.3(UNC13D):c.435T>C (p.Gly145=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3690225	NM_199242.3(UNC13D):c.177A>G (p.Ala59=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3689703	NM_199242.3(UNC13D):c.1182G>A (p.Glu394=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3689236	NM_199242.3(UNC13D):c.754-9G>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3688189	NM_199242.3(UNC13D):c.2298+9T>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3686130	NM_199242.3(UNC13D):c.666T>C (p.Asp222=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3685562	NM_199242.3(UNC13D):c.388+8T>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3681221	NM_199242.3(UNC13D):c.2825C>G (p.Ser942Cys)	LOC112533672, UNC13D (S942C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3681185	NM_199242.3(UNC13D):c.321+7T>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3678045	NM_199242.3(UNC13D):c.408C>T (p.Cys136=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3677245	NM_199242.3(UNC13D):c.2553+8A>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3675737	NM_199242.3(UNC13D):c.583A>G (p.Ile195Val)	UNC13D (I195V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3673794	NM_199242.3(UNC13D):c.786C>T (p.Pro262=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3670736	NM_199242.3(UNC13D):c.614+13G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3670560	NM_199242.3(UNC13D):c.2277C>T (p.Gly759=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3670535	NM_199242.3(UNC13D):c.2710-4C>T	LOC112533672, UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3669474	NM_199242.3(UNC13D):c.606G>A (p.Leu202=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3663818	NM_199242.3(UNC13D):c.1744C>G (p.Leu582Val)	UNC13D (L582V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3663408	NM_199242.3(UNC13D):c.2151C>G (p.Ala717=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3661410	NM_199242.3(UNC13D):c.762C>T (p.Arg254=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3661110	NM_199242.3(UNC13D):c.1389+10T>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3654946	NM_199242.3(UNC13D):c.1344C>T (p.Cys448=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3650556	NM_199242.3(UNC13D):c.858+18C>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3648034	NM_199242.3(UNC13D):c.309C>T (p.Val103=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3646514	NM_199242.3(UNC13D):c.2447+14C>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3645460	NM_199242.3(UNC13D):c.2448-12del	UNC13D	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3644882	NM_199242.3(UNC13D):c.141C>T (p.Phe47=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3644458	NM_199242.3(UNC13D):c.388+15G>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3644337	NM_199242.3(UNC13D):c.754-5G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3642523	NM_199242.3(UNC13D):c.2538G>A (p.Leu846=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3642191	NM_199242.3(UNC13D):c.1055+16T>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3640919	NM_199242.3(UNC13D):c.1298+13C>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3640503	NM_199242.3(UNC13D):c.2553+15C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3640146	NM_199242.3(UNC13D):c.1727+18T>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3639759	NM_199242.3(UNC13D):c.2447+11G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3639047	NM_199242.3(UNC13D):c.1056-9C>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3638995	NM_199242.3(UNC13D):c.3153G>A (p.Gly1051=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3638828	NM_199242.3(UNC13D):c.2352_2355del (p.Val785fs)	UNC13D (V785fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 3638107	NM_199242.3(UNC13D):c.615-5G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3637687	NM_199242.3(UNC13D):c.3056_3059del (p.Phe1019fs)	UNC13D (F1019fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 3635963	NM_199242.3(UNC13D):c.1174-6C>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3632056	NM_199242.3(UNC13D):c.787del (p.Leu263fs)	UNC13D (L263fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 3630996	NM_199242.3(UNC13D):c.1545-16G>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3630935	NM_199242.3(UNC13D):c.305G>C (p.Arg102Pro)	UNC13D (R102P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3630842	NM_199242.3(UNC13D):c.2205del (p.Gln736fs)	UNC13D (Q736fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 3628077	NM_199242.3(UNC13D):c.859-7A>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3624706	NM_199242.3(UNC13D):c.1056-4G>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3623773	NM_199242.3(UNC13D):c.1849-5C>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3623225	NM_199242.3(UNC13D):c.684-16A>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3622227	NM_199242.3(UNC13D):c.285G>A (p.Glu95=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3618455	NM_199242.3(UNC13D):c.1055+15C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3613207	NM_199242.3(UNC13D):c.3151+17G>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3611623	NM_199242.3(UNC13D):c.117+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3606632	NM_199242.3(UNC13D):c.1174-12C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3583057	NM_199242.3(UNC13D):c.118-2A>G	UNC13D	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583056	NM_199242.3(UNC13D):c.289C>T (p.Gln97Ter)	UNC13D (Q97*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583055	NM_199242.3(UNC13D):c.424dup (p.Gln142fs)	UNC13D (Q142fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 3583054	NM_199242.3(UNC13D):c.783C>G (p.Tyr261Ter)	UNC13D (Y261*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583053	NM_199242.3(UNC13D):c.810C>A (p.Tyr270Ter)	UNC13D (Y270*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583052	NM_199242.3(UNC13D):c.858+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583051	NM_199242.3(UNC13D):c.1177G>T (p.Glu393Ter)	UNC13D (E393*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583050	NM_199242.3(UNC13D):c.1193C>A (p.Ser398Ter)	UNC13D (S398*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583049	NM_199242.3(UNC13D):c.1523_1524dup (p.Trp509fs)	UNC13D (W509fs)	Microsatellite (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583048	NM_199242.3(UNC13D):c.2847dup (p.Val950fs)	LOC112533672, UNC13D (V950fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583046	NM_199242.3(UNC13D):c.3152-2A>C	UNC13D	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3583045	NM_199242.3(UNC13D):c.3225dup (p.His1076fs)	UNC13D (H1076fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3466010	NM_199242.3(UNC13D):c.2978G>A (p.Arg993His)	UNC13D (R993H)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 3243033	NC_000017.10:g.(?_73839091)_(73841319_?)del	UNC13D	Deletion	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 3023592	NM_199242.3(UNC13D):c.417C>T (p.Gly139=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3022329	NM_199242.3(UNC13D):c.3135G>A (p.Thr1045=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3020923	NM_199242.3(UNC13D):c.1998C>A (p.Thr666=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3020759	NM_199242.3(UNC13D):c.2658C>T (p.Ala886=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3019766	NM_199242.3(UNC13D):c.1848+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3019552	NM_199242.3(UNC13D):c.1875G>A (p.Lys625=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3019228	NM_199242.3(UNC13D):c.2830+18T>G	LOC112533672, UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign

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